Aberrant Protein Turn-Over Associated With Myofibrillar Disorganization in FHL1 Knockout Mice
نویسندگان
چکیده
منابع مشابه
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and Emery-Dreifuss muscular dystrophy. However, it remains to be clarified whether mutations in FHL1 cause skeletal ...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2018
ISSN: 1664-8021
DOI: 10.3389/fgene.2018.00273